Biology:Haplogroup Q-M242

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Short description: Human Y chromosome DNA grouping common among Native Americans
Haplogroup Q
Global frequency distribution map of haplogroup Q-M242 (Y-DNA).png
Frequency distribution of haplogroup Q-M242.[1]
Possible time of origin17,200 to 31,700 years ago[2][3][4] (approximately 24,500 years BP)
Possible place of originCentral Asia,[5][6] South Central Siberia[3]
AncestorP1-M45
DescendantsQ1 (L232/S432)
Defining mutationsM242 rs8179021
Highest frequenciesKets 93.8%,[7] South American Indians 92%,[8] Turkmens from Karakalpakstan (mainly Yomut) 73%,[9] Selkups 66.4%.,[7] Altaians 63.6%.,[10] Tuvans (from Xinjiang) 62.5%.,[11] Chelkans 60.0%.,[10] Greenlandic Inuit 54%,[12] Tubalar 41%,[10] Siberian Tatars (Ishtyak-Tokuz Tatars) 38%,[13] Inuit, the indigenous peoples of the Americas, Akha people of northern Thailand, Mon-Khmer people and some tribes of Assam

Haplogroup Q or Q-M242 is a Y-chromosome DNA haplogroup. It has one primary subclade, Haplogroup Q1 (L232/S432), which includes numerous subclades that have been sampled and identified in males among modern populations.

Q-M242 is the predominant Y-DNA haplogroup among Native Americans and several peoples of Central Asia and Northern Siberia.

Origins

Haplogroup Q-M242 is one of the two branches of P-P226 (M45), the other being R-M207.[14]

Q-M242 is believed to have arisen around the Altai Mountains area (or South Central Siberia),[3] approximately 17,000[3] to 31,700 years ago.[4] However, the matter remains unclear due to limited sample sizes and changing definitions of Haplogroup Q: early definitions used a combination of the SNPs M242, P36.2, and MEH2 as defining mutations.

Technical specification of mutation

The polymorphism, “M242”, is a C→T transition residing in intron 1 (IVS-866) of the DBY gene and was discovered by Mark Seielstad et al. in 2003.[15] The technical details of M242 are:

Nucleotide change: C to T
Position (base pair): 180
Total size (base pairs): 366
Forward 5′→ 3′:
aactcttgataaaccgtgctg
Reverse 5′→ 3′:
tccaatctcaattcatgcctc

Subclades

In Y chromosome phylogenetics, subclades are the branches of a haplogroup. These subclades are also defined by single-nucleotide polymorphisms (SNPs) or unique-event polymorphisms (UEPs). Haplogroup Q-M242, according to the most recent available phylogenetics has between 15 and 21 subclades. The scientific understanding of these subclades has changed rapidly. Many key SNPs and corresponding subclades were unknown to researchers at the time of publication are excluded from even recent research. This makes understanding the meaning of individual migration paths challenging.

Phylogenetic trees

There are several confirmed and proposed phylogenetic trees available for haplogroup Q-M242. The scientifically accepted one is the Y Chromosome Consortium (YCC) one published in Karafet 2008 and subsequently updated. A draft tree that shows emerging science is provided by Thomas Krahn at the Genomic Research Center in Houston, Texas . The International Society of Genetic Genealogy (ISOGG) also provides an amateur tree.

The 2015 ISOGG tree

The subclades of Haplogroup Q-M242 with their defining mutation (s), according to the 2015 ISOGG tree[5] are provided below. The first three levels of subclades are shown. Additional detail is provided on the linked branch article pages.

  • Q-M242 M242
    • Q-P36.2 P36.2, L232, L273, L274 (Q1)
      • Q-MEH2 MEH2 (Q1a)
        • Q-F1096 F1096, F1215 (Q1a1)
          • Q-NWT01 NWT01 (Q1a1a)
            • Q-M120 M120, M265/N14 (Q1a1a1)
          • Q-M25 M25, M143 (Q1a1b)
            • Q-L712 L712 (Q1a1b1)
        • Q-M346 L56, L57, M346, L528 (Q1a2)
          • Q-L53 L53 (Q1a2a)
            • Q-L54 L54 (Q1a2a1)
              • Q-CTS11969 CTS11969, M930 (Q1a2a1a)
                • Q-M3 M3 (Q1a2a1a1)
                  • Q-M19 M19 (Q1a2a1a1a)
                • Q-L804 L804 (Q1a2a1a2)
              • Q-CTS1780 CTS1780, M981, M971, Z780 (Q1a2a1b)
              • Q-L330 L330 (Q1a2a1c)
          • Q-F835 F835, L940 (Q1a2b)
          • Q-F1161 F1161
            • Q-L527 L527
      • Q-L275 L275, L314 (Q2)
        • Q-M378 M378/Page100, L214, L215/Page82 (Q2a)
          • Q-FGC1774 FGC1774, Y2016 (Q1b1a)
            • Q-245 L245 (Q1b1a1)
        • Q-Y1150 Y1150 (Q1b2) (Q1b-L68)

The Genomic Research Center draft tree

Below is a 2012 tree by Thomas Krahn of the Genomic Research Center.[16] The first three levels of subclades are shown. Additional detail is provided on the linked branch article pages.[17]

  • P-M45
    • Q-M242 M242
      • P36.2, L232, L273.1, L274.1
        • MEH2, L472, L528
        • L275, L314, L606, L612
          • M378, L214, L215

The Y Chromosome Consortium tree

This is the 2008 tree produced by the Y Chromosome Consortium (YCC).[18] Subsequent updates have been quarterly and biannual. The current version is a revision of the 2010 update.[19] The first three levels of subclades are shown. Additional detail is provided on the linked branch article pages.

Phylogenetic variants

The subclade (under Q-MEH2) proposed by Sharma (2007), which shows polymorphism (ss4bp, rs41352448) at 72,314 position of human arylsulfatase D pseudogene, is not represented in any current trees under Q-MEH2.[20] The most plausible explanation for this could be an ancestral migration of individuals bearing Q-MEH2 to the Indian subcontinent followed by an autochthonous differentiation to Q-ss4bp.[6]

Distribution

Americas

Several branches of haplogroup Q-M242 have been predominant pre-Columbian male lineages in indigenous peoples of the Americas. Most of them are descendants of the major founding groups who migrated from Asia into the Americas by crossing the Bering Strait.[3] These small groups of founders must have included men from the Q-M346, Q-L54, Q-Z780, and Q-M3 lineages. In North America, two other Q-lineages also have been found. These are Q-P89.1 (under Q-MEH2) and Q-NWT01. They may have not been from the Beringia Crossings but instead come from later immigrants who traveled along the shoreline of Far East Asia and then the Americas using boats.

It is unclear whether the current frequency of Q-M242 lineages represents their frequency at the time of immigration or is the result of the shifts in a small founder population over time. Regardless, Q-M242 came to dominate the paternal lineages in the Americas.

North America

In the indigenous people of North America, Q-M242 is found in Na-Dené speakers at an average rate of 68%. The highest frequency is 92.3% in Navajo, followed by 78.1% in Apache,[3] 87%[3] in SC Apache,[21] and about 80% in North American Eskimo (Inuit, Yupik)–Aleut populations. (Q-M3 occupies 46% among Q in North America)[22]

On the other hand, a 4000-year-old Saqqaq individual belonging to Q1a-MEH2* has been found in Greenland. Surprisingly, he turned out to be genetically more closely related to Far East Siberians such as Koryaks and Chukchi people rather than Native Americans.[23] Today, the frequency of Q runs at 53.7% (122/227: 70 Q-NWT01, 52 Q-M3) in Greenland, showing the highest in east Sermersooq at 82% and the lowest in Qeqqata at 30%.[12]

Q-M242 is estimated to occupy 3.1% of the whole US population in 2010:[24]

Ethnicity Percentage of USA population † Haplogroup Q frequency
White people 63.7% Q-P36* 0.6% & Q-M3 0.1%
Hispanic 16.3% Q-P36* 3.8% & Q-M3 7.9%
Black 12.6% Q-P36* (xM3) 0.2%
Asian 4.8% ~0%
Native American ‡ 0.9% Q-P36* 31.2% & Q-M3 26.9%
Source :[24]

† According to the US National Population Census data (2010)[25]

‡ Mainland and Alaska, not including the Pacific islands

Mesoamerica & South America

Haplogroup Q-M242 has been found in approximately 94% of Indigenous peoples of Mesoamerica and South America.[8]

The frequencies of Q among the whole male population of each country reach as follows:

  • 61% in Bolivia.[26]
  • 51% in Guatemala,[27]
  • 40.1% (159/397)[28] to 50% in Peru
  • 37.6% in Ecuador,[29]
  • 37.3% (181/485) in Mexico[28] (30.8% (203/659) among the specifically Mestizo segment)[30]
  • 31.2% (50/160) in El Salvador,[31]
  • 15.3% (37/242) to 21.8% (89/408) in Panama,[28][32]
  • 16.1% in Colombia,[33]
  • 15.2% (25/165) in Nicaragua,[34]
  • 9.7% (20/206) in Chile ,[28]
  • 5.3% (13/246 in 8 provinces in northeastern, central, southern regions)[35] to 23.4% (181/775 in 8 provinces in central-west, central, northwest regions)[36] in Argentina ,
  • 5% in Costa Rica,[37]
  • 3.95% in Brazil ,[38] and so on.

Asia

Q-M242 originated in Asia (Altai region), and is widely distributed across it.[3] Q-M242 is found in Russia , Siberia (Kets,[7] Selkups, Siberian Yupik people, Nivkhs, Chukchi people,[39] Yukaghirs, Tuvans,[40] Altai people,[10] Koryaks, etc.), Mongolia,[41] China ,[42][43] Uyghurs,[41] Tibet,[44] Korea, Japan , Indonesia,[45] Vietnam,[46] Thailand,[47] India ,[48] Pakistan ,[48] Afghanistan, Iran,[49] Iraq, Saudi Arabia, Turkmenistan, Uzbekistan, and so on. (For details, see below.)

North Asia

In Siberia, the regions between Altai and Lake Baikal, which are famous for many prehistoric cultures and as the most likely birthplace of haplogroup Q, exhibit high frequencies of Q-M242. In a study (Dulik 2012),[50] Q-M242 (mostly Q-M346 including some Q-M3) has been found in 24.3% (46/189: 45 Q-M346, 1 Q-M25) of all Altaian samples. Among them, Chelkans show the highest frequency at 60.0% (15/25: all Q-M346), followed by Tubalars at 41% (11/27: 1 Q-M25, 10 Q-M346) and Altaians-Kizhi at 17% (20/120). In a former study, Q-M242 is found in 4.2% of southern Altaians and 32.0% of northern Altaians with the highest frequency of 63.6% in Kurmach-Baigol (Baygol). The frequency reaches 13.7% (20/146) in the whole samples.[10] In another study,[51] the frequency rises up to 25.8% (23/89: all Q-M346) in Altaians. Based on the results of these studies, the average frequency of Q-M242 in Altaians is about 21%.

Tuva, which is located on the east side of Altai Republic and west of Lake Baikal as well as on the north side of Mongolia, shows higher frequency of Q-M242. It is found in 14%[52]~38.0% (41/108)[51] of Tuvans. Also, Todjins (Tozhu Tuvans) in eastern Tuva show the frequency at ≤22.2% (8/36 P(xR1)[53])~38.5% (10/26, all Q-M346(xM3)).[51] So, the average frequency of Q-M242 among Tuvans-Todjins in Tuva Republic is about 25%. Haplogroup Q-M242 has been found in 5.9% (3/51) of a sample of Tuvans from the village of Kanasi, 9.8% (5/51) of a sample of Tuvans from the village of Hemu, and 62.5% (30/48) of a sample of Tuvans from the village of Baihaba in northern Xinjiang near the international border with Altai Republic.[11]

In Siberian Tatars, the Ishtyako-Tokuz sub-group of Tobol-Irtysh group has a frequency of Q-M242 at 38%.[13]

The highest frequencies of Q-M242 in Eurasia are witnessed in Kets (central Siberia) at 93.8% (45/48) and in Selkups (north Siberia) at 66.4% (87/131).[7] Russian ethnographers believe that their ancient places were farther south, in the area of the Altai and Sayan Mountains[3] (Altai-Sayan region). Their populations are currently small in number, being just under 1,500 and 5,000 respectively. In linguistic anthropology, the Ket language is significant as it is currently the only surviving one in the Yeniseian language family which has been linked by some scholars to the Native American Na-Dené languages[54] and, more controversially, the language of the Huns. (See: L. Lieti, E. Pulleybank,[55] E. Vajda,[56] A. Vovin,[57] etc.) Q-M346 is also found at lower rates in Sojots (7.1%, Q-M346), Khakassians (6.3%, Q-M346), Kalmyks (3.4%, Q-M25, Q-M346)[51] and Khanty,[58] and so on.

In far eastern Siberia, Q-M242 is found in 35.3% of Nivkhs (Gilyaks) in the lower Amur River, and 33.3% of Chukchi people and 39.2% of Siberian Yupik people in Chukotka (Chukchi Peninsula).[39] It is found in 30.8% of Yukaghirs who live in the basin of the Kolyma River, which is located northwest of Kamchatka.[40] It is also found in 15% (Q1a* 9%, Q-M3 6%) of Koryaks in Kamchatka.[28]

East Asia

In some studies, various subgroups of Q-M242 are observed in Mongolia. Q1a2-M346 (mostly Q-L330) occupies 1.4[28]~3.1%[49] of Mongols (1/2~2/3 among Q samples), followed by Q1a1a1-M120 (0.25[28]~1.25%[49]), Q1a1b-M25 (0.25[28]~0.63%[49]), Q1b-M378. In another study, Q is found in 4% of Mongols.[8] Karafet et al. (2018) found Q-L54(xM3) in 2.7% (2/75) and Q-M25 in another 2.7% (2/75) for a total of 5.3% (4/75) haplogroup Q Y-DNA in a sample of Khalkha Mongols from Ulaanbaatar, Mongolia.[59] Based on these studies, the average frequency of Q-M242 in Mongols is estimated to be about 4~5%.

However, most of Q-M242 people in East Asia belong to subclade Q-M120, which distributes most intensively across northern China (the provinces of which the capitals locate northern to Huai River-Qin Mountains line). Q-M242 ranged from 4~8% in northwest China (Xinjiang, Gansu, Shaanxi), north China (Shanxi, Hebei), central China (Henan), and upper east China (Shandong) to 3~4% in northeast China. The average frequency of Q-M242 in northern China is around 4.5%. However, it decreases to about 2% in southern China.[42][43] In a study published in 2011, researchers have found Q-M242 in 3.3% (12/361) of the samples of unrelated Han-Chinese male volunteers at Fudan University in Shanghai with the origins from all over China, though with the majority coming from east China.[60] In another study published in 2011, Hua Zhong et al. found haplogroup Q-M242 in 3.99% (34/853, including 30/853 Q-M120, 3/853 Q-M346, and 1/853 Q-M25) of a pool of samples of Han Chinese from northern China and 1.71% (15/876, including 14/876 Q-M120 and 1/876 Q-M346) of a pool of samples of Han Chinese from southern China.[61] Q1a1-M120 is unique to East Asians. It is not found in South east Asia except with low diversity in Y-STR among southern Han Chinese indicating it spread during the Neolithic with Han Chinese culture to southern China from northern China. Q1a3*-M346 is only found among Hui and southern Han Chinese in South East Asia in southern China but not found in non-Han indigenous peoples at all. It came from northern China (north east Asia) with the Han. Only Native Americans have Q1a3a-M3, which is a descendant haplogroup of Q1a3*-M346. The Americas was populated by migrants from Central Asia in prehistoric times.[62] Q1a1 is attested in over 3,000 year old Han Chinese ancestral remains in the Shang and Zhou dynasties from the Hengbei archeological site.[63] Modern northern Han Chinese Y haplogroups and mtdna match those of ancient northern Han Chinese ancestors 3,000 years ago from the Hengbei archeological site. 89 ancient samples were taken. Y haplogroups O3a, O3a3, M, O2a, Q1a1, and O* were all found in Hengbei samples.[64]

Q-M242 has been found with notable frequency in some samples of Uyghurs: 15.38% (22/143, including 6/143 Q-M378, 5/143 Q-P36.2*, 4/143 Q-M120, 4/143 Q-M346, 1/143 Q-M25) of a sample of Uyghurs from the Turpan area (吐鲁番地区),[65] 7.9% (6/76, including 2/76 Q1b1-L215/Page82/S325, 1/76 Q1a2-M346*, 1/76 Q1a1a1-M120, 1/76 Q1a2a1c-L330*, 1/76 Q1a2a1c1-L332) of a sample of Dolan Uyghurs (刀郎人) from Horiqol Township of Awat County,[66] and 7.74% (37/478, including 24/478 Q-M346, 7/478 Q-P36.2*, 5/478 Q-M120) of a sample of Uyghurs from the Hotan area (和田地区).[67] However, other studies have found haplogroup Q in much smaller percentages of Uyghur samples: 3.0% (2/67) Q-P36 Uygur,[68] 1.6% (1/64) Q-M120 Lop Uyghur (罗布人).[66] Haplogroup Q was not observed in a sample of 39 Keriyan Uyghurs (克里雅人) from the village of Darya Boyi, located on the Keriya River deep in the Taklamakan Desert.[66]

Haplogroup Q was observed in 3.2% (5/156 : 2 Q-M120, 3 Q-M346) of males in Tibet in one study[44] and in 1.23% (29/2354) of males in Tibet in another study,[69] but this haplogroup was not observed in a sample of males from Tibet (n=105) in a third study.[68]

It is found in about 1.9% of South Koreans,[70][71][72] showing the highest frequency in Seoul and Gyeonggi Province at 2.7% and decreasing ones to the south (Kim 2010). It has been found in about 0.3% of Japanese[73][68][74][75][76] (with known examples from Shizuoka[68] and Saitama[75]) and in 0.3%[47]~1.2%[77] of Taiwanese.

Subclade Q1b-M378 is also found in China and its neighboring countries at very low frequencies. It exists throughout all Mongolia, with rare examples in Japan .[78]

Southeast Asia

Haplogroup Q shows low frequencies in Southeast Asia. In a study,[45] the frequencies of haplogroup Q is 5.4% (2/37) in Indonesia, 3.1% (2/64) in the Philippines , 2.5% (1/40) in Thailand. However, other studies show 0% or near 0% frequencies in those countries.[47]

In the case of Vietnam, the frequency is 7.1% in one study of a sample of Vietnamese reported to be from southern Vietnam[79][80] and 4.3% in a sample of Kinh people from Ho Chi Minh City in southern Vietnam,[76] but 0% or under 1% in other studies in which samples have been collected in Hanoi in northern Vietnam.[45][80][47] So, it is hard to define average frequencies. However, Macholdt et al. (2020) have tested a sample of fifty Kinh people from northern Vietnam (all but one of whom are from the Red River Delta region, and 42 of whom are from Hanoi) and found that two of them (4%) belong to Q-M120.[81]

Only some regions and ethnic groups in the continent show high frequencies. Q-M242 is found in 2.8% (3/106, all Q-M346) in Myanmar, and all the Q samples are concentrated in 18.8% in Ayeyarwady (2/11) and 7.1% Bago (1/14) regions in southwest Myanmar.[82] And, Q-M242 is found in 55.6% (15/27) in the Akha tribe in northern Thailand.[47]

Central Asia

In Central Asia, the southern regions show higher frequencies of Q than the northern ones.

In the northern regions, Q-M242 is found in about 2%[83]~6%[84][85] (average 4%) of Kazakhs. A study published in 2017 found haplogroup Q Y-DNA in 3.17% (41/1294) of a large pool of samples of Kazakh tribes; however, haplogroup Q was concentrated in the members of the Qangly tribe (27/40 = 67.5%), and it was much less common among the other tribes.[86] The Qangly tribe is related at least in name to the earlier Kankalis and probably also the Kangar union. Haplogroup Q is found in about 2% of Kyrgyz people.[49][84][85]

In the southern regions, Q-M242 is found in 5%[87]~6%[84][85] of Tajiks (Tajikistan). Karafet et al. 2001 found P-DYS257(xQ1b1a1a-M3, R-UTY2), which should be roughly equivalent to haplogroup Q-M242(xM3), in 4/54 = 7.4% of a sample of Uzbeks, apparently sampled in Uzbekistan.[88] Wells et al. 2001 found P-M45(xM120, M124, M3, M173), which should be roughly equivalent to a mix of Q-M242(xM120, M3) and R2-M479(xR2a-M124), in 20/366 = 5.5% of a pool of samples of Uzbeks from seven different regions of Uzbekistan.[84] Di Cristofaro et al. 2013 found Q-M242 in 11/127 = 8.7% of a pool of samples of Uzbeks from three different provinces of Afghanistan, including 5/94 Q-M242(xM120, M25, M346, M378), 4/94 Q-M346, and 1/94 Q-M25 (10/94 = 10.6% Q-M242 total) in a sample of Uzbeks from Jawzjan Province, whose northern border abuts the southeastern corner of Turkmenistan, and 1/28 Q-M242(xM120, M25, M346, M378) in a sample of Uzbeks from Sar-e Pol Province.[49] Wells et al. (2001) found P-M45(xM120, M124, M3, M173) in 10.0% (3/30) of a sample of Turkmens from Turkmenistan, whereas Karafet et al. (2018) found Q-M25 in 50.0% (22/44) of another sample of Turkmens from Turkmenistan, so the frequency of haplogroup Q in that country is not yet clear. However, Grugni et al. (2012) found Q-M242 in 42.6% (29/68) of a sample of Turkmens from Golestan, Iran, and Di Cristofaro et al. (2013) found Q-M25 in 31.1% (23/74) and Q-M346 in 2.7% (2/74) for a total of 33.8% (25/74) Q-M242 in a sample of Turkmens from Jawzjan, Afghanistan, so the frequency of Q-M242 may reach about 40% in Turkmens of Afghanistan and Iran who live in the areas adjacent to Turkmenistan.

Q-M242 accounts for 6.9% of Afghans in a study (Haber 2012). In another study (Cristofaro 2013) with a larger sampling, the frequency of Q rises to 8.9% (45/507). Haplogroup Q occurs at a frequency of 8% (11/136) in Afghan Pashtuns and 3% (5/142) in Afghan Tajiks.[89][90] In this study(Cristofaro 2013), Turkmens of Jowzjan Province which is neighboring to Turkmenistan show the highest frequency at 33.8% (25/74: 23 Q-M25, 2 Q-M346), followed by Uzbeks at 8.7% (11/144: 6 Q*, 1 Q-M25, 4 Q-M346).[49]

Southwest Asia

Southwest Asia exhibits high frequencies of Q in northern Iran, and gradually lowering ones to the southwest.

Q-M242 accounts for 5.5% (52/938) in Iran according to Grugni 2012, which shows a large and well allocated sampling. The Q samples (52) in the study consist of various subclades such as Q* (3), Q-M120 (1), Q-M25 (30), Q-M346 (8), Q-M378 (10). The highest frequency is at 42.6% (29/68, all Q-M25) in Turkmens of Golestan, followed by 9.1% in Isfahan (Persian people), 6.8% in Khorasan (Persian people), 6% in Lorestan (Luristan, Lurs), 4.9% in Azarbaijan Gharbi (5.1% of Assyrians and 4.8% of Azeris), 4.5% in Fars (Persian people), and so on.[91] Turkmens are known as the descendants of Oghuz Turks who built many Turkic empires and dynasties. Other studies also show similar frequencies.[92][93][94]

In a study (Zahery 2011), the frequency of Q is 1.9% (3/154: all Q-M378) in Iraqis (x Marsh Arabs), and 2.8% (4/143: 1 Q-M25, 3 Q-M378) in Marsh Arabs who are known as the descendants of ancient Sumerians.[95]

Approximately 2.5% (4/157: 3 Q*, 1 Q-M346) of males in Saudi Arabia belong to haplogroup Q. It also accounts for 1.8% (3/164: 2 Q*, 1 Q-M346) in the United Arab Emirates and 0.8% (1/121: Q*) in Oman peoples.[96][97]

Haplogroup Q-M242 has also been found in 1.1% (1/87, Q-P36) Syrians[79] and 2.0% (18/914, 14 Q*, 4 Q-M25) in Lebanese.[98]

Approximately 2% (10/523: 9 Q*, 1 Q-M25) of males in Turkey belong to haplogroup Q.[99] In a study (Gokcumen 2008), it was found that among Turks who belong to the Afshar tribe (one of Oghuz Turks) haplogroup Q-M242 is seen with a prevalence of 13%.[100]

South Asia

In Pakistan at the eastern end of the Iranian Plateau, the frequency of haplogroup Q-M242 is about 2.2% (14/638)[101]~3.4% (6/176).[102]

In a study (Sharma2007), Q-M242 is observed in 2.38% (15/630) of Indian people belonging to different regions and social categories. What is interesting is 14/15 samples do not belong to any known subgroups of Q-M242, with 4 among them showing novel (Indian-specific) ‘ss4bp’ allele under Q-MEH2. This study also reflects the results of some former studies (Sengupta 2006, Seielstad 2003). And, the accumulated result (frequency) of 3 studies is turned out to be 1.3% (21/1615), with 11 out of 21 Q samples.[6] (For more information, see Y-DNA haplogroups in populations of South Asia)

In a regional study in Gujarat (Western India), Q-M242 was found at its highest 12% (3/25) among Nana Chaudharis while the overall percentage in Gujarat was found to be 2.8% (8/284).[103] In another study, 2.6% of Tharus in Chitwan district and 6.1% (3/49) of Hindus in New Delhi, the capital of India were found to be Q-M242 positive.[104]

In a study in which Q-M242 is just classified in P* group, P* (x R1, R2) accounts for 9.7% (23/237: Chakma 13/89, Marma 4/60, Tripura 6/88) in three ethnic groups of Bangladesh.[105] In many cases, all or most of P* (x R1, R2) means Q-M242, and thus most of P* (9.7%) samples in that study can be estimated to be Q-M242.

1.2% of Nepalese people in Kathmandu, the capital of Nepal and 3.2% of people from Tibet are in Q-M242.[44]

3.3% of Sri Lankans[79] are also in Q-M242.

Europe

Q-M242 is distributed across most European countries at low frequencies, and the frequencies decrease to the west and to the south.

Central- and Eastern Europe

In Central- Eastern Europe, Q-M242 comprises about 1.7% of males. Q-M242 is found in about 2% of Russians,[106] 1.5% of Belarusians,[107] 1.3% of Ukrainians[citation needed] 1.3% of Poles (Poland),[108] 2% of Czechs,[109] 1.5% of Slovaks,[110] about 2.2% of Hungarians,{citation needed} 1.2% of Romanians,[111] 0.8% of Moldovans,[112] and 0.5% (4/808: 2 Q-M378, 1 Q-M346, 1 Q-M25) of Bulgarians[113] On the other hand, 3.1% of Székelys from Transylvania (who have claimed to be descendants of Attila's Huns) turned out to be P* (xR1-M173),[114] which virtually means Q-M242. In a related DNA Project of FT-DNA, the frequency of Q-M25 in Székelys (Szeklers) reaches 4.3%.[115][116]

The Caucasus region shows a frequency at 1.2% in a study,[93] but it may reach over 4% in Azerbaijan, in that 4.9% of the neighboring Iranian Azerbaijanis harbor Q-M242.[92] It is 1.3% in Georgians and Armenians respectively, and Armenian subclades consist of Q-M378 (L245), Q-M346, and Q-M25.[117]

Northern Europe

In Northern Europe, haplogroup Q comprises about 2.5% of males. According to the Swedish Haplogroup Database, 4.1% (27/664, as of Jan 2016) of Swedish males belong to Q-M242. About 2/3 of the samples analyzed subclades in detail belong to Q1a2b-F1161/L527 and about 1/3 are in Q1a2a-L804. By county, they are distributed intensively in the southern region (Götaland,: not to be confused with Gotland), and rarely to the north. If recalculated by county-population weights, the frequency of Q in Sweden reaches 4.7%.

In Norway , Q-M242 is found in about 2.6% (~4%[118]) of males, with Q-L804 being more common than Q-F1161/L527.[119] It is observed among 1.6% of males in Denmark , 3% in the Faroe Islands (known to be related to Vikings).[120] In an article (Helgason et al.) on the haplotypes of Icelanders, 7.2% (13/181) of males in Iceland are labelled as R1b-Branch A, but they are actually Q-M242.[118][121] On the other hand, it is 0.2% in Finland ,[122] 4.6% in Latvia,[123] 1.1% in Lithuania,[124] 0.5% in Estonia.

Western Europe

In Western Europe, Q-M242 is observed at very low frequencies, around 0.5% in most of the countries, such as Germany , France , United Kingdom , etc., but some regions show a little higher. It is 2.1% in Switzerland ,[125] and it reaches 5.1% in Lyon (Rhône-Alpes) region of France.[126] It is about 4% in Shetland of northernmost Britain, with a place in it showing the highest figure at 8%. Shetland has been known to be a settlement of Vikings. And, surprisingly, Q-M242 in Shetland (also in some areas of Scandinavia, Faroe Islands, Iceland, and the United Kingdom) has turned out to be generically closely linked to the Q-M242 in Central Asia. Also, Shetland (Norse) Q-M242 is revealed to be linked to some Q-M242 of Azeris (Azerbaijan).[118]

Southern Europe

Southern Europe also shows low frequencies of Q around 0.5%~1%, but some regions exhibits different figures. It is 1.9% in mainland Croatia, but it reaches 14.3% (13/91) in Hvar Islands and 6.1% (8/132) in Korčula.[126] Also, it is about 0.6% in Italy, but it rises to 2.5% (6/236) in Sicily, where it reaches 16.7% (3/18) in Mazara del Vallo region, followed by 7.1% (2/28) in Ragusa, 3.6% in Sciacca,[127] and 3.7% in Belvedere Marittimo.[128]

On the other hand, according to a study (Behar 2004), 5.2% (23/441) of Ashkenazi Jewish males belong to haplogroup Q-P36.[129] This has subsequently been found to be entirely the Q-M378 subclade and may be restricted to Q-L245. Also, 2.3% (4/174)[130]~5.6% (3/53)[131] of Sephardi Jews are in haplogroup Q.

Africa

Haplogroup Q is rarely found across North Africa. It is observed in 0.7% (1/147),[97] of Egyptians and in 0.6% (1/156)[93] of Algerian people. Surprisingly, it is also witnessed in 0.8% (3/381, all Q-M346) of males from Comoros which is located in between East Africa and Madagascar .

To combine the data above, Q-M242 is estimated to be in about 3.1% of males of the world.

Subclade distribution

  • Q (M242)
    • Q* — Found with low frequency in India and Pakistan .[48] Important in Afghanistan, paragroup Q-M242 (xMEH2, xM378) was found in eight Pashtun males (3 Kabul, 4 Laghman, 1 Kapisa).[132] Also found in one Rapanui male of Easter Island.[133]
    • Q-P36.2 (P36.2) Found with low frequency in Iran.[134]
      • Q-MEH2 (MEH2) Was found in Koryaks (at 10.3%), although the level of STR diversity associated with Q-MEH2 is very low, this lineage appears to be closest to the extinct Paleo-Eskimo individuals belonging to the Saqqaq culture arisen in the New World Arctic about 5.5 Ka.[135]
      • Q-L275 (L275, L314)
        • Q-M378 (M378) — It is widely distributed in Europe, South Asia, West and East Asia. It is found among samples of Hazaras and Sindhis.[102] It is also found in the Mongols, the Japanese people and the Uyghurs of North-Western China in two separate groups.[144] The Q-M378 subclade is a branch to which Q-M242 men in some European Jewish Diaspora populations belong. Its subbranch Q-L245's subclades Q-Y2200 and Q-YP1035 are found in Ashkenazi Jews.[145] Some Sephardic Jews carry other subclades of Q-L245, including Q-BZ3900, Q-YP745, and Q-YP1237. Q-M378 samples also have been located in Central America (Panama) and South America (Andean Region)[28]

Y-DNA Q samples from ancient sites

Main page: Biology:List of haplogroups of historic people
  • South Central Siberia (near Altai)
    • Afontova-Gora-2, Yenisei River Bank, Krasnoyarsk (South Central Siberia of Russia), 17000YBP: Q1a1-F1215 (mtDNA R)[146]
  • North America
  • Altai (West Mongolia)
    • Tsagaan Asga and Takhilgat Uzuur-5 Kurgan sites, westernmost Mongolian Altai, 2900YBP-4800YBP: 4 R1a1a1b2-Z93 (B.C. 10C, B.C. 14C, 2 period unknown), 3 Q1a2a1-L54 (period unknown), 1 Q-M242 (B.C. 28C), 1 C-M130 (B.C. 10C)[150]
  • Greenland
  • China
    • Hengbei site (Peng kingdom cemetery of Western Zhou period), Jiang County, Shanxi, 2800-3000YBP: 9 Q1a1-M120, 2 O2a-M95, 1 N, 4 O3a2-P201, 2 O3, 4 O*[152]
      • In another paper, the social status of those human remains of ancient Peng kingdom(倗国) are analyzed. aristocrats: 3 Q1a1 (prostrate 2, supine 1), 2 O3a (supine 2), 1 N (prostrate) / commoners : 8 Q1a1 (prostrate 4, supine 4), 3 O3a (prostrate 1, supine 2), 3 O* (supine 3) / slaves: 3 O3a, 2 O2a, 1 O*[153]
      • (cf) Pengbo (倗伯), Monarch of Peng Kingdom is estimated as Q-M120.
    • Pengyang County, Ningxia, 2500YBP: all 4 Q1a1-M120[152] (with a lot of animal bones and bronze swords and other weapons, etc.)
    • Heigouliang, Xinjiang, 2200YBP: 6 Q1a* (not Q1a1-M120, not Q1a1b-M25, not Q1a2-M3), 4 Q1b-M378, 2 Q* (not Q1a, not Q1b: unable to determine subclades):[154]
      • In a paper (Lihongjie 2012), the author analyzed the Y-DNAs of the ancient male samples from the 2nd or 1st century BCE cemetery at Heigouliang in Xinjiang – which is also believed to be the site of a summer palace for Xiongnu kings – which is east of the Barkol basin and near the city of Hami. The Y-DNA of 12 men excavated from the site belonged to Q-MEH2 (Q1a) or Q-M378 (Q1b). The Q-M378 men among them were regarded as hosts of the tombs; half of the Q-MEH2 men appeared to be hosts and the other half as sacrificial victims.
    • Xiongnu site in Barkol, Xinjiang, all 3 Q-M3
      • In L. L. Kang et al. (2013), three samples from a Xiongnu) site in Barkol, Xinjiang were found to be Q-M3 (Q1a2a1a1). And, as Q-M3 is mostly found in Yeniseians and Native Americans, the authors suggest that the Xiongnu had connections to speakers of the Yeniseian languages.[155][156] These discoveries from the above papers (Li 2012, Kang et al., 2013) have some positive implications on the not as yet clearly verified theory that the Xiongnu were precursors of the Huns.
    • Mongolian noble burials in the Yuan dynasty, Shuzhuanglou Site, northernmost Hebei China , 700YBP: all 3 Q (not analysed subclade, the principal occupant Gaodangwang Korguz (高唐王=趙王 阔里吉思)’s mtDNA=D4m2, two others mtDNA=A)[157]
      • (cf) Korguz was a son of a princess of Kublai Khan (元 世祖), and was the king of the Ongud tribe. He died in 1298 and was reburied in Shuzhuanglou in 1311 by his son. (Do not confuse this man with the Uyghur governor, Korguz who died in 1242.) The Ongud tribe (汪古部) was a descendant of the Shatuo tribe (沙陀族) which was a tribe of Göktürks (Western Turkic Khaganate) and was prominent in the Five Dynasties and Ten Kingdoms period of China, building three dynasties. His two queens were all princesses of the Yuan dynasty (Kublai Khan's granddaughters). It was very important for the Yuan dynasty to maintain a marriage alliance with Ongud tribe which had been a principal assistant since Genghis Khan's period. About 16 princesses of the Yuan dynasty married kings of the Ongud tribe.

See also

Populations

Y-DNA Q-M242 subclades

Y-DNA backbone tree

References

  1. ↑ Balanovsky, Oleg; Gurianov, Vladimir; Zaporozhchenko, Valery; Balaganskaya, Olga; Urasin, Vadim; Zhabagin, Maxat; Grugni, Viola; Canada, Rebekah et al. (February 2017). "Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration". BMC Evolutionary Biology 17 (S1): 18. doi:10.1186/s12862-016-0870-2. PMID 28251872. Bibcode: 2017BMCEE..17S..18B. 
  2. ↑ Fagundes, Nelson J. R.; Kanitz, Ricardo; Eckert, Roberta; Valls, Ana C. S.; Bogo, Mauricio R.; Salzano, Francisco M.; Smith, David Glenn; Silva, Wilson A. et al. (2008). "Mitochondrial Population Genomics Supports a Single Pre-Clovis Origin with a Coastal Route for the Peopling of the Americas". American Journal of Human Genetics 82 (3): 583–592. doi:10.1016/j.ajhg.2007.11.013. PMID 18313026. PMC 2427228. http://www.familytreedna.com/pdf/Fagundes-et-al.pdf. Retrieved 2009-11-19. "Since the first studies, it has been found that extant Native American populations exhibit almost exclusively five "mtDNA haplogroups" (A–D and X)6 classified in the autochthonous haplogroups A2, B2, C1, D1, and X2a.7 Haplogroups A–D are found all over the New World and are frequent in Asia, supporting a northeastern Asian origin of these lineages". 
  3. ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 Zegura, S. L.; Karafet, TM; Zhivotovsky, LA; Hammer, MF (2004). "High-Resolution SNPs and Microsatellite Haplotypes Point to a Single, Recent Entry of Native American Y Chromosomes into the Americas". Molecular Biology and Evolution 21 (1): 164–75. doi:10.1093/molbev/msh009. PMID 14595095. 
  4. ↑ 4.0 4.1 YFull YTree v4.02
  5. ↑ 5.0 5.1 Y-DNA Haplogroup Q and its Subclades - 2016
  6. ↑ 6.0 6.1 6.2 "A novel subgroup Q5 of human Y-chromosomal haplogroup Q-M242 in India". BMC Evol. Biol. 7 (1): 232. 2007. doi:10.1186/1471-2148-7-232. PMID 18021436. 
  7. ↑ 7.0 7.1 7.2 7.3 Karafet, T. M. (2002). "High Levels of Y-Chromosome Differentiation among Native Siberian Populations and the Genetic Signature of a Boreal Hunter-Gatherer Way of Life". Human Biology 74 (6): 761–789. doi:10.1353/hub.2003.0006. PMID 12617488. 
  8. ↑ 8.0 8.1 8.2 8.3 Bortolini, Maria-Catira; Salzano, Francisco M.; Thomas, Mark G.; Stuart, Steven; Nasanen, Selja P.K.; Bau, Claiton H.D.; Hutz, Mara H.; Layrisse, Zulay et al. (September 2003). "Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas". The American Journal of Human Genetics 73 (3): 524–539. doi:10.1086/377588. PMID 12900798. 
  9. ↑ https://www.researchgate.net/publication/310645015_Gene_pool_of_Turkmens_from_Karakalpakstan_in_their_Central_Asian_context_Y-chromosome_polymorphism[full citation needed]
  10. ↑ 10.0 10.1 10.2 10.3 10.4 Kharkov, V. N.; Stepanov, V. A.; Medvedeva, O. F.; Spiridonova, M. G.; Voevoda, M. I.; Tadinova, V. N.; Puzyrev, V. P. (2007). "Gene Pool Differences between Northern and Southern Altaians Inferred from the Data on Y-Chromosomal Haplogroups". Genetika 43 (5): 675–687. doi:10.1134/S1022795407050110. PMID 17633562. 
  11. ↑ 11.0 11.1 Yong-Ke, ZhangExpression error: Unrecognized word "etal". (2009). "Genetic relationships between Tuva population and the neighboring populations in the Altai Region of Xinjiang Uygur Autonomous Region". Yi Chuan = Hereditas 31 (8): 818–824. doi:10.3724/SP.J.1005.2009.00818. PMID 19689942. 
  12. ↑ 12.0 12.1 Katharina Olofsson, Jill (2015). "Peopling of the North Circumpolar Region – Insights from Y Chromosome STR and SNP Typing of Greenlanders". PLOS ONE 10 (1): e0116573. doi:10.1371/journal.pone.0116573. PMID 25635810. Bibcode: 2015PLoSO..1016573O. 
  13. ↑ 13.0 13.1 Пять генофондов пяти субэтносов сибирских татар
  14. ↑ Estes, Roberta (2020-09-12). "Y DNA Haplogroup P Gets a Brand-New Root – Plus Some Branches" (in en-US). https://dna-explained.com/2020/09/12/y-dna-haplogroup-p-gets-a-brand-new-root-plus-some-branches/. 
  15. ↑ Seielstad, Mark; Yuldasheva, Nadira; Singh, Nadia; Underhill, Peter; Oefner, Peter; Shen, Peidong; Wells, R. Spencer (2003). "A Novel Y-Chromosome Variant Puts an Upper Limit on the Timing of First Entry into the Americas". The American Journal of Human Genetics 73 (3): 700–705. doi:10.1086/377589. ISSN 0002-9297. PMID 12929085. 
  16. ↑ Proposed Tree
  17. ↑ Krahn, Thomas. "FTDNA Draft Y-DNA Tree (AKA YTree)". Family Tree DNA. http://ytree.ftdna.com/index.php?name=Draft&parent=root. 
  18. ↑ Karafet, T. M.; Mendez, F. L.; Meilerman, M. B.; Underhill, P. A.; Zegura, S. L.; Hammer, M. F. (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research 18 (5): 830–8. doi:10.1101/gr.7172008. PMID 18385274. 
  19. ↑ "Y-DNA Haplotree". https://www.familytreedna.com/y-dna-haplotree.aspx.  Family Tree DNA uses the Y-Chromosome Consortium tree and posts it on their website.
  20. ↑ That is because it is a value for the STR DYS435 with a value of 8--> 9 within haplogroup Q-M242 and the trend is to include only binary markers in phylogenetic trees. However, these are from studies where all current branches of the Q-M242 tree have not been tested. The problematic phylogeny sampling of early studies has been demonstrated by subsequent studies that have found Q-M346, Q-M378, and Q-M25 in South Asia.
  21. ↑ Malhi, RS; Gonzalez-Oliver, A; Schroeder, KB; Kemp, BM; Greenberg, JA; Dobrowski, SZ; Smith, DG; Resendez, A et al. (2008). "Distribution of Y chromosomes among native North Americans: a study of Athapaskan population history". Am. J. Phys. Anthropol. 137 (4): 412–24. doi:10.1002/ajpa.20883. PMID 18618732. 
  22. ↑ "Frequency Distribution of Y-DNA Haplogroup Q M3". GeneTree. 2010. http://www.genetree.com/education/q. 
  23. ↑ 23.0 23.1 Rasmussen, Morten; Li, Yingrui; Lindgreen, Stinus; Pedersen, Jakob Skou; Albrechtsen, Anders; Moltke, Ida; Metspalu, Mait; Metspalu, Ene et al. (February 2010). "Ancient human genome sequence of an extinct Palaeo-Eskimo". Nature 463 (7282): 757–762. doi:10.1038/nature08835. PMID 20148029. Bibcode: 2010Natur.463..757R. 
  24. ↑ 24.0 24.1 Hammer (Dec 2006). "Population structure of Y chromosome SNP haplogroups in the United States and forensic implications for constructing Y chromosome STR databases". Forensic Sci. Int. 164 (1): 45–55. doi:10.1016/j.forsciint.2005.11.013. PMID 16337103. 
  25. ↑ Population Estimates
  26. ↑ Vullo, Carlos (2014). "Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations". Int J Legal Med 129 (4): 673–680. doi:10.1007/s00414-014-1025-x. PMID 24878616. 
  27. ↑ Söchtig, Jens (2015). "Genomic insights on the ethno-history of the Maya and the 'Ladinos' from Guatemala". BMC Genomics 16 (1): 131. doi:10.1186/s12864-015-1339-1. PMID 25887241.  => Guatemala population consists of about 40% Tribal Natives (Mayans)+60% Native (Spanish Speaking). According to this paper, 89% of Mayan and 25% of Ladinos belong to Y-DNA Q. Thus, 40*0.89+60*0.25=50.6%
  28. ↑ 28.0 28.1 28.2 28.3 28.4 28.5 28.6 28.7 28.8 Battaglia (2013). "The First Peopling of South America: New Evidence from Y-Chromosome Haplogroup Q". PLOS ONE 8 (8): e71390. doi:10.1371/journal.pone.0071390. PMID 23990949. Bibcode: 2013PLoSO...871390B. 
  29. ↑ Gaviria, A. (2013). "Characterization and Haplotype analysis of 11 Y-STR loci in Ecuadorian population". Forensic Sci. Int. Genet. Suppl. 4 (1): e310–e311. doi:10.1016/j.fsigss.2013.10.158. 
  30. ↑ Martínez-Cortés, G (2012). "Admixture and population structure in Mexican-Mestizos based on paternal lineages". J. Hum. Genet. 57 (9): 568–74. doi:10.1038/jhg.2012.67. PMID 22832385. 
  31. ↑ Lovo-Gómez, J (Sep 2007). "The genetic male legacy from El Salvador". Forensic Sci. Int. 171 (2–3): 198–203. doi:10.1016/j.forsciint.2006.07.005. PMID 16916590. 
  32. ↑ Grugni (2015). "Exploring the Y Chromosomal Ancestry of Modern Panamanians". PLOS ONE 10 (12): e0144223. doi:10.1371/journal.pone.0144223. PMID 26636572. Bibcode: 2015PLoSO..1044223G. 
  33. ↑ Rojas, Win (2010). "Genetic Make Up and Structure of Colombian Populations by Means of Uniparental and Biparental DNA Markers". American Journal of Physical Anthropology 143 (1): 13–20. doi:10.1002/ajpa.21270. PMID 20734436. => (DANE, 2006) 86% of the whole Colombian population self-reported as of Mixed Ancestry, 3.4% as Native American, 10.5% as African-Columbian. In this paper, 12% (114/954) of MA, 95.7% (135/141) of NA, and 23.8% (5/21) of AC are turned out to be Y-DNA Q. Thus, 86*0.12+3.4*0.957+10.5*0.238=16.1%
  34. ↑ Núñez, Carolina (2012). "Y chromosome haplogroup diversity in a Mestizo population of Nicaragua". Forensic Sci. Int. Genet. 6 (6): e192–e195. doi:10.1016/j.fsigen.2012.06.011. PMID 22770600.  The author revised his previous paper, genotyping 2 more samples as haplogroup Q by Y-SNP test.
  35. ↑ Corach, Daniel (2010). "Inferring Continental Ancestry of Argentineans from Autosomal, Y-Chromosomal and Mitochondrial DNA". Annals of Human Genetics 74 (1): 65–76. doi:10.1111/j.1469-1809.2009.00556.x. PMID 20059473. 
  36. ↑ Ramallo (Dec 2009). "Comparison of Y-chromosome haplogroup frequencies in eight Provinces of Argentina". Forensic Science International: Genetics Supplement Series 2 (1): 431–432. doi:10.1016/j.fsigss.2009.08.047. 
  37. ↑ Villalta, M.; Rodriguez, A.; González, L.; Arce, V.; Arrieta, G.; Morales, A.; Gusmão, L.; Espinoza, M. (August 2008). "Haplotype data for 12 Y-chromosome STR loci from Costa Rica". Forensic Science International: Genetics Supplement Series 1 (1): 252–254. doi:10.1016/j.fsigss.2007.10.101. 
  38. ↑ Palha, T. (2012). "Disclosing the Genetic Structure of Brazil through Analysis of Male Lineages with Highly Discriminating Haplotypes". PLOS ONE 7 (7): e40007. doi:10.1371/journal.pone.0040007. PMID 22808085. Bibcode: 2012PLoSO...740007P. => about 80 out of 2,024 (3.95%) samples in the paper collected from all the regions of Brazil can be classified as Y-DNA Q.
  39. ↑ 39.0 39.1 Jeffrey, T. (Jan 2002). "The Dual Origin and Siberian Affinities of Native American Y Chromosomes". The American Journal of Human Genetics 70 (1): 192–206. doi:10.1086/338457. PMID 11731934.  The SNPs used in the paper are P-M45, R1a1-M17, Q1a2-M3, and other xP-M45 SNPs. And the author mentions that, among ethnic groups in the paper, R1-M173 is harbored only in some eastern Siberian Udegeys and Koryaks and Native Americans. Also, R2 (distributed in India and its neighbours) cannot be found in far east Siberia. Thus, P-M45 except some samples mentioned above virtually means Q-M242 (xM3). In the paper, 35.3% of Nivkhs and 20.8% of Chukchi people and 18.2% of Siberian Eskimos are shown in P-M45, and 12.5% of Chukchis and 21.2% of Siberian Eskimos are in Q-M3. All of them can be estimated to be in haplogroup Q.
  40. ↑ 40.0 40.1 Pakendorf, Brigitte; Novgorodov, Innokentij N.; Osakovskij, Vladimir L.; Danilova, Al’Bina P.; Protod’Jakonov, Artur P.; Stoneking, Mark (2006). "Investigating the effects of prehistoric migrations in Siberia: genetic variation and the origins of Yakuts". Human Genetics 120 (3): 334–353. doi:10.1007/s00439-006-0213-2. PMID 16845541. 
  41. ↑ 41.0 41.1 Hammer, Michael F.; Karafet, Tatiana M.; Park, Hwayong; Omoto, Keiichi; Harihara, Shinji; Stoneking, Mark; Horai, Satoshi (2005). "Dual origins of the Japanese: Common ground for hunter-gatherer and farmer Y chromosomes". Journal of Human Genetics 51 (1): 47–58. doi:10.1007/s10038-005-0322-0. PMID 16328082. 
  42. ↑ 42.0 42.1 42.2 "Genetic evidence supports demic diffusion of Han culture". Nature 431 (7006): 302–5. September 2004. doi:10.1038/nature02878. PMID 15372031. Bibcode: 2004Natur.431..302W. "Supplementary Table 2: NRY haplogroup distribution in Han populations". 
  43. ↑ 43.0 43.1 43.2 43.3 Su, Bing; Xiao, Chunjie; Deka, Ranjan; Seielstad, Mark T.; Kangwanpong, Daoroong; Xiao, Junhua; Lu, Daru; Underhill, Peter et al. (2000). "Y chromosome haplotypes reveal prehistorical migrations to the Himalayas". Human Genetics 107 (6): 582–90. doi:10.1007/s004390000406. PMID 11153912. 
  44. ↑ 44.0 44.1 44.2 44.3 44.4 Gayden, Tenzin (May 2007). "The Himalayas as a Directional Barrier to Gene Flow". The American Journal of Human Genetics 80 (5): 884–894. doi:10.1086/516757. PMID 17436243. 
  45. ↑ 45.0 45.1 45.2 Kim, Soon-Hee (2011). "High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea". Investigative Genetics 2 (1): 10. doi:10.1186/2041-2223-2-10. PMID 21463511. 
  46. ↑ 46.0 46.1 Karafet, Tatiana M. et al. (2010). "Major East–West Division Underlies Y Chromosome Stratification across Indonesia". Mol. Biol. Evol. 27 (8): 1833–1844. doi:10.1093/molbev/msq063. PMID 20207712. 
  47. ↑ 47.0 47.1 47.2 47.3 47.4 Trejaut, J.A. (2014). "Taiwan Y-chromosomal DNA variation and its relationship with Island Southeast Asia". BMC Genetics 15: 77. doi:10.1186/1471-2156-15-77. PMID 24965575. 
  48. ↑ 48.0 48.1 48.2 "The Y Chromosome Consortium 2008". http://ycc.biosci.arizona.edu/new_binary_polymorphism/resultsanddiscussions.html. 
  49. ↑ 49.0 49.1 49.2 49.3 49.4 49.5 49.6 Cristofaro (2013). "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge". PLOS ONE 8 (10): e76748. doi:10.1371/journal.pone.0076748. PMID 24204668. Bibcode: 2013PLoSO...876748D. 
  50. ↑ Dulik, M C (Feb 2012). "Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaian". The American Journal of Human Genetics 90 (2): 229–246. doi:10.1016/j.ajhg.2011.12.014. PMID 22281367. 
  51. ↑ 51.0 51.1 51.2 51.3 Malyarchuk, Boris (2011). "Ancient links between Siberians and Native Americans revealed by subtyping the Y chromosome haplogroup Q1a". Journal of Human Genetics 56 (8): 583–588. doi:10.1038/jhg.2011.64. PMID 21677663. 
  52. ↑ KHARKOV, Vladimir Nikolaevich, "СТРУКТУРА И ФИЛОГЕОГРАФИЯ ГЕНОФОНДА КОРЕННОГО НАСЕЛЕНИЯ СИБИРИ ПО МАРКЕРАМ Y-ХРОМОСОМЫ," Genetika 03.02.07 and "АВТОРЕФЕРАТ диссертации на соискание учёной степени доктора биологических наук," Tomsk 2012
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  63. ↑ Zhao, Yong-Bin; Zhang, Ye; Li, Hong-Jie; Cui, Ying-Qiu; Zhu, Hong; Zhou, Hui (Nov–Dec 2014). "Ancient DNA evidence reveals that the Y chromosome haplogroup Q1a1 admixed into the Han Chinese 3,000 years ago". Am J Hum Biol 26 (6): 813–21. doi:10.1002/ajhb.22604. PMID 25130911. https://www.ncbi.nlm.nih.gov/pubmed/25130911. 
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  71. ↑ Jin Park, Myung (2012). "Understanding the Y chromosome variation in Korea-relevance of combined haplogroup and haplotype analyses". International Journal of Legal Medicine 126 (4): 589–599. doi:10.1007/s00414-012-0703-9. PMID 22569803. 
  72. ↑ The frequencies of Q-M242 shown in both studies (Kim2010, Park2012) are 1.4% (7/506, Kim) and 1.8% (13/706, Park) respectively. But, if recalculated by regional population weights, the adjusted frequencies reach 1.87% (Kim) and 1.91% (Park) respectively, converging to 1.9%.
  73. ↑ Peter A. Underhill, Peidong Shen, Alice A. Lin, et al. (2000), "Y chromosome sequence variation and the history of human populations." Nature Genetics, Volume 26, November 2000.
  74. ↑ Xue, Yali; Zerjal, Tatiana; Bao, Weidong; Zhu, Suling; Shu, Qunfang; Xu, Jiujin; Du, Ruofu; Fu, Songbin et al. (April 2006). "Male Demography in East Asia: A North–South Contrast in Human Population Expansion Times". Genetics 172 (4): 2431–2439. doi:10.1534/genetics.105.054270. PMID 16489223. 
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  77. ↑ 77.0 77.1 Wang C-C, Wang L-X et al. (2014). "Genetic Structure of Qiangic Populations Residing in the Western Sichuan Corridor". PLOS ONE 9 (8): e103772. doi:10.1371/journal.pone.0103772. PMID 25090432. Bibcode: 2014PLoSO...9j3772W. 
  78. ↑ Yamamoto, Toshimichi; Senda, Tomoki; Horiba, Daiki; Sakuma, Masayoshi; Kawaguchi, Yuuka; Kano, Yuuichi (2013). "Y-chromosome lineage in five regional Mongolian populations". Forensic Science International: Genetics Supplement Series 4 (1): e260–e261. doi:10.1016/j.fsigss.2013.10.133. 
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  83. ↑ Turspekov (2012). "The Kazakhstan DNA project hits first hundred Y-profiles for ethnic Kazakhs". The Russian Journal of Genetic Genealogy 2: 1. 
  84. ↑ 84.0 84.1 84.2 84.3 84.4 84.5 Wells, R. Spencer; Yuldasheva, Nadira; Ruzibakiev, Ruslan; Underhill, Peter A.; Evseeva, Irina; Blue-Smith, Jason; Jin, Li; Su, Bing et al. (28 August 2001). "The Eurasian Heartland: A continental perspective on Y-chromosome diversity". Proceedings of the National Academy of Sciences of the United States of America 98 (18): 10244–10249. doi:10.1073/pnas.171305098. PMID 11526236. Bibcode: 2001PNAS...9810244W. 
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  86. ↑ E. E. Ashirbekov, D. M. Botbaev, A. M. Belkozhaev, A. O. Abayldaev, A. S. Neupokoeva, J. E. Mukhataev, B. Alzhanuly, D. A. Sharafutdinova, D. D. Mukushkina, M. B. Rakhymgozhin, A. K. Khanseitova, S. A. Limborska, and N. A. Aytkhozhina, "Distribution of Y-Chromosome Haplogroups of the Kazakh from the South Kazakhstan, Zhambyl, and Almaty Regions." Reports of the National Academy of Sciences of the Republic of Kazakhstan, ISSN 2224-5227, Volume 6, Number 316 (2017), 85 - 95.
  87. ↑ Malyarchuk, B (Jan 2013). "Y-chromosome variation in Tajiks and Iranians". Ann. Hum. Biol. 40 (1): 48–54. doi:10.3109/03014460.2012.747628. PMID 23198991. 
  88. ↑ Karafet (Sep 2001). "Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes". The American Journal of Human Genetics 69 (3): 615–628. doi:10.1086/323299. PMID 11481588. 
  89. ↑ Haber, Marc; Platt, Daniel E.; Ashrafian Bonab, Maziar; Youhanna, Sonia C.; Soria-Hernanz, David F.; Martínez-Cruz, Begoña; Douaihy, Bouchra; Ghassibe-Sabbagh, Michella et al. (2012-03-28). "Afghanistan's Ethnic Groups Share a Y-Chromosomal Heritage Structured by Historical Events". PLOS ONE 7 (3): e34288. doi:10.1371/journal.pone.0034288. PMID 22470552. Bibcode: 2012PLoSO...734288H. 
  90. ↑ Di Cristofaro, Julie; Pennarun, Erwan; Mazières, Stéphane; Myres, Natalie M.; Lin, Alice A.; Temori, Shah Aga; Metspalu, Mait; Metspalu, Ene et al. (2013-10-18). "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge". PLOS ONE 8 (10): e76748. doi:10.1371/journal.pone.0076748. PMID 24204668. Bibcode: 2013PLoSO...876748D. 
  91. ↑ 91.0 91.1 Grugni, Viola (2012). "Ancient Migratory Events in the Middle East: New Clues from the Y-Chromosome Variation of Modern Iranians". PLOS ONE 7 (7): e41252. doi:10.1371/journal.pone.0041252. PMID 22815981. Bibcode: 2012PLoSO...741252G. 
  92. ↑ 92.0 92.1 Regueiro, M.; Cadenas, A.M.; Gayden, T.; Underhill, P.A.; Herrera, R.J. (2006). "Iran: Tricontinental Nexus for Y-Chromosome Driven Migration". Human Heredity 61 (3): 132–143. doi:10.1159/000093774. PMID 16770078. 
  93. ↑ 93.0 93.1 93.2 Bekada, Asmahan (2013). "Introducing the Algerian Mitochondrial DNA and Y-Chromosome Profiles into the North African Landscape". PLOS ONE 8 (2): e56775. doi:10.1371/journal.pone.0056775. PMID 23431392. Bibcode: 2013PLoSO...856775B. 
  94. ↑ The frequency of Q is 4% (6/150, all Q-M25) in Regueiro 2006, in which it is 9.1% (3/33) in north Iran and 2.6% (3/117) in south Iran. But, since more people live in the northern regions, if recalculated by population weights, the frequency will reach about 6%. It is also 6.2% (35/566) in Bekada 2013 with a large-scale sampling.
  95. ↑ Al-Zahery, Nadia (2011). "In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq". BMC Evolutionary Biology 11 (1): 288. doi:10.1186/1471-2148-11-288. PMID 21970613. Bibcode: 2011BMCEE..11..288A. 
  96. ↑ 96.0 96.1 "Y-chromosome diversity characterizes the Gulf of Oman". Eur. J. Hum. Genet. 16 (3): 374–86. March 2008. doi:10.1038/sj.ejhg.5201934. PMID 17928816. 
  97. ↑ 97.0 97.1 97.2 Abu-Amero, Khaled K.; Hellani, Ali; Gonzalez, Ana M.; Larruga, Jose M; Cabrera, Vicente M; Underhill, Peter A (2009). "Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions". BMC Genetics 10 (1): 59. doi:10.1186/1471-2156-10-59. PMID 19772609. 
  98. ↑ "Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events". Am. J. Hum. Genet. 82 (4): 873–82. April 2008. doi:10.1016/j.ajhg.2008.01.020. PMID 18374297. 
  99. ↑ 99.0 99.1 "Excavating Y-chromosome haplotype strata in Anatolia". Hum. Genet. 114 (2): 127–48. January 2004. doi:10.1007/s00439-003-1031-4. PMID 14586639. 
  100. ↑ Gokcumen, Omer (2008). Ethnohistorical and Genetic Survey of Four Central Anatolian Settlements. University of Pennsylvania. ISBN 978-0-549-80966-1. https://books.google.com/books?id=V5oPGbeBnxkC. Retrieved May 13, 2014. 
  101. ↑ Firasat, Sadaf; Khaliq, Shagufta; Mohyuddin, Aisha; Papaioannou, Myrto; Tyler-Smith, Chris; Underhill, Peter A; Ayub, Qasim (2007). "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan". European Journal of Human Genetics 15 (1): 121–126. doi:10.1038/sj.ejhg.5201726. PMID 17047675. 
  102. ↑ 102.0 102.1 102.2 102.3 102.4 Sengupta, Sanghamitra; Zhivotovsky, Lev A.; King, Roy; Mehdi, S.Q.; Edmonds, Christopher A.; Cheryl-, Cheryl-Emiliane T.; Chow, Emiliane T.; Lin, Alice A. et al. (2006). "Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists". The American Journal of Human Genetics 78 (2): 202–221. doi:10.1086/499411. PMID 16400607. 
  103. ↑ Khurana, P (2014). "Y Chromosome Haplogroup Distribution in Indo-European Speaking Tribes of Gujarat, Western India". PLOS ONE 9 (3): e90414. doi:10.1371/journal.pone.0090414. PMID 24614885. Bibcode: 2014PLoSO...990414K. 
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  105. ↑ Nahar Gazi, Nurun (2013). "Genetic Structure of Tibeto-Burman Populations of Bangladesh: Evaluating the Gene Flow along the Sides of Bay-of-Bengal". PLOS ONE 8 (10): e75064. doi:10.1371/journal.pone.0075064. PMID 24130682. Bibcode: 2013PLoSO...875064G. 
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  107. ↑ Khar'kov, VN (Aug 2005). "Frequencies of Y chromosome binary haplogroups in Belarussians". Genetika 41 (8): 1132–6. doi:10.1007/s11177-005-0182-x. PMID 16161635. 
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  109. ↑ Ehler, Edvard (Jun 2011). "Y-chromosomal diversity of the Valachs from the Czech Republic: model for isolated population in Central Europe". Croat Med J 52 (3): 358–367. doi:10.3325/cmj.2011.52.358. PMID 21674832. 
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  111. ↑ "Family Tree DNA - Genetic Testing for Ancestry, Family History & Genealogy". https://www.familytreedna.com/groups/romania/dna-results. 
  112. ↑ Varzari, Alexander (2013). "Paleo-Balkan and Slavic Contributions to the Genetic Pool of Moldavians: Insights from the Y Chromosome". PLOS ONE 8 (1): e53731. doi:10.1371/journal.pone.0053731. PMID 23341985. Bibcode: 2013PLoSO...853731V. 
  113. ↑ Karachanak, Sena (2013). "Y-Chromosome Diversity in Modern Bulgarians: New Clues about Their Ancestry". PLOS ONE 8 (3): e56779. doi:10.1371/journal.pone.0056779. PMID 23483890. Bibcode: 2013PLoSO...856779K. 
  114. ↑ Csányi, B. (July 2008). "Y-Chromosome Analysis of Ancient Hungarian and Two Modern Hungarian-Speaking Populations from the Carpathian Basin". Annals of Human Genetics 72 (4): 519–534. doi:10.1111/j.1469-1809.2008.00440.x. PMID 18373723. 
  115. ↑ Hungarian Bukovina
  116. ↑ Q-L712 Subclades of haplogroup Q-M25: Q-L712, Q-L715, Q-L713, Q-YP789
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  118. ↑ 118.0 118.1 118.2 David K. Faux, 2007, The Genetic Link of the Viking – Era Norse to Central Asia: An Assessment of the Y Chromosome DNA, Archaeological, Historical and Linguistic Evidence, http://www.davidkfaux.org/CentralAsiaRootsofScandinavia-Y-DNAEvidence.pdf
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  120. ↑ Allison Mann, Vikings, merchants, and pirates at the top of the world : Y-chromosomal signatures of recent and ancient migrations in the Faroe Islands, MA Thesis of University of Louisville, 2012.
  121. ↑ Shetland Islands Haplogroups R1a & Q
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  123. ↑ "Family Tree DNA - My FamilyTree DNA Latvia Project Website". https://www.familytreedna.com/public/Latvia/default.aspx?section=yresults. 
  124. ↑ "Family Tree DNA - LITHUANIAN DNA". https://www.familytreedna.com/public/LithuanianDNA/default.aspx?section=yresults. 
  125. ↑ "Family Tree DNA - Switzerland DNA Project". https://www.familytreedna.com/public/switzerland/default.aspx?section=yresults. 
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  128. ↑ Brisighelli, F (2012). "Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage". PLOS ONE 7 (12): e50794. doi:10.1371/journal.pone.0050794. PMID 23251386. Bibcode: 2012PLoSO...750794B.  In Table S4, #BEL50 is estimated to be Q-M378 by haplotype, though it is shown as just P* (xR1).
  129. ↑ Behar, DM (Mar 2004). "Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations". Hum Genet 114 (4): 354–65. doi:10.1007/s00439-003-1073-7. PMID 14740294. 
  130. ↑ Adams, Susan M. (Dec 2008). "The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula". The American Journal of Human Genetics 83 (6): 725–736. doi:10.1016/j.ajhg.2008.11.007. PMID 19061982. 
  131. ↑ Alain Farhi et al., Preliminary Results of Sephardic DNA Testing, AVOTAYNU Volume XXIII, Number 2 Summer 2007, p.10
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  133. ↑ Ghiani, ME; Moral, P; Mitchell, RJ; Hernández, M; García-Moro, C; Vona, G (2006). "Y-chromosome-Specific STR haplotype data on the Rapanui population (Easter Island)". Hum Biol 78 (5): 565–78. doi:10.1353/hub.2007.0005. PMID 17506287. 
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  135. ↑ Malyarchuk, Boris; Derenko, Miroslava; Denisova, Galina; Maksimov, Arkady; Wozniak, Marcin; Grzybowski, Tomasz; Dambueva, Irina; Zakharov, Ilya (2011). "Ancient links between Siberians and Native Americans revealed by subtyping the Y chromosome haplogroup Q1a". Journal of Human Genetics 56 (8): 583–8. doi:10.1038/jhg.2011.64. PMID 21677663. 
  136. ↑ Malyarchuk, Boris; Derenko, Miroslava; Denisova, Galina; Khoyt, Sanj; Woźniak, Marcin; Grzybowski, Tomasz; Zakharov, Ilya (2013). "Y-chromosome diversity in the Kalmyks at the ethnical and tribal levels". Journal of Human Genetics 58 (12): 804–811. doi:10.1038/jhg.2013.108. PMID 24132124. 
  137. ↑ 137.0 137.1 137.2 137.3 137.4 137.5 137.6 Di Cristofaro, J et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge". PLOS ONE 8 (10): e76748. doi:10.1371/journal.pone.0076748. PMID 24204668. Bibcode: 2013PLoSO...876748D. 
  138. ↑ Cai, X; Qin, Z; Wen, B; Xu, S; Wang, Y; Lu, Yan; Wei, Lanhai; Wang, Chuanchao et al. (2011). "Human Migration through Bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum Revealed by Y Chromosomes". PLOS ONE 6 (8): e24282. doi:10.1371/journal.pone.0024282. PMID 21904623. Bibcode: 2011PLoSO...624282C. 
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  140. ↑ Monika Karmin, Lauri Saag, Mário Vicente, et al. (2015), "A recent bottleneck of Y chromosome diversity coincides with a global change in culture." Genome Research 25:1–8. Published by Cold Spring Harbor Laboratory Press; ISSN 1088-9051/15; www.genome.org.
  141. ↑ Zalloua, Pierre A.; Xue, Y; Khalife, J; Makhoul, N; Debiane, L; Platt, DE; Royyuru, AK; Herrera, RJ et al. (2008). "Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events". American Journal of Human Genetics 82 (4): 873–882. doi:10.1016/j.ajhg.2008.01.020. PMID 18374297. 
  142. ↑ "Learn about Y-DNA Haplogroup Q". Wendy Tymchuk - Senior Technical Editor. Genebase Systems. 2008. http://www.genebase.com/tutorial/item.php?tuId=16. 
  143. ↑ Shen, Peidong; Lavi, Tal; Kivisild, Toomas; Chou, Vivian; Sengun, Deniz; Gefel, Dov; Shpirer, Issac; Woolf, Eilon et al. (2004). "Reconstruction of patrilineages and matrilineages of Samaritans and other Israeli populations from Y-Chromosome and mitochondrial DNA sequence Variation". Human Mutation 24 (3): 248–60. doi:10.1002/humu.20077. PMID 15300852.  Q-M323 in 3/20=15% of a sample of Yemenite Jews.
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  145. ↑ Brook, Kevin Alan (2018). The Jews of Khazaria (3rd ed.), p. 204. Rowman & Littlefield.
  146. ↑ YFull - Experimental Y Tree, Y-SNP calls for Afontova Gora 2, Afantova had haplogroup Q1a1 and some type of R derived mtdna.
  147. ↑ Rasmussen, M. et al. (February 2014). "The genome of a Late Pleistocene human from a Clovis burial site in western Montana". Nature 506 (7487): 225–229. doi:10.1038/nature13025. PMID 24522598. Bibcode: 2014Natur.506..225R. 
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  150. ↑ Hollard et al., Strong genetic admixture in the Altai at the Middle Bronze Age revealed by uniparental and ancestry informative makers, Forensic Science International: Genetics, published online 4 June 2014
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  152. ↑ 152.0 152.1 On Henbei, Pengyang, and Heigouliang, Lihongjie, Y-Chromosome Genetic Diversity of the Ancient North Chinese populations, Jilin University-China (2012)
  153. ↑ Zhao, Yong-Bin; Zhang, Ye; Li, Hong-Jie; Cui, Ying-Qiu; Zhu, Hong; Zhou, Hui (November 2014). "Ancient DNA evidence reveals that the Y chromosome haplogroup Q1a1 admixed into the Han Chinese 3,000 years ago". American Journal of Human Biology 26 (6): 813–821. doi:10.1002/ajhb.22604. PMID 25130911. 
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  155. ↑ L. L. Kang et al., Y chromosomes of ancient Hunnu people and its implication on the phylogeny of East Asian linguistic families (2013)
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  157. ↑ Qui, Y (2015). "Identification of kinship and occupant status in Mongolian noble burials of the Yuan dynasty through a multidisciplinary approach". Phil. Trans. R. Soc. B370 (1660): 20130378. doi:10.1098/rstb.2013.0378. PMID 25487330. 

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